Bernard-Soulier Syndrome: An Inherited Platelet Disorder (Report‪)‬

Bernard-Soulier syndrome (BSS) was first recognized in 1948 by two French hematologists--Jean Bernard and Jean Pierre Soulier. They described a patient from a consanguineous family afflicted with severe bleeding episodes, thrombocytopenia, and very large platelets. (1) Bernard-Soulier syndrome is a very rare quantitative and qualitative platelet disorder with an autosomal recessive mode of inheritance. Due to frequent misdiagnosis and underreporting, the true prevalence is unknown. However, based on reported cases from North America, Europe, and Japan, the estimated prevalence is less than 1 in 1000 000.2 Heterozygous carriers are usually asymptomatic, although they may have mild bleeding tendencies. (3) There have also been reports of a mild form of BSS with an autosomal dominant inheritance trait. (4) PATHOPHYSIOLOGY